Canonical Allele Identifier: CA2401993515
Community Standard Title: NM_012179.4(FBXO7):c.1132C= (p.Arg378=)
Gene: FBXO7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32493269C= , CM000684.2:g.32493269C= GRCh38
NC_000022.10:g.32889256C= , CM000684.1:g.32889256C= GRCh37
NC_000022.9:g.31219256C= NCBI36
NG_016001.1:g.23550C=
NG_016001.2:g.23550C=

Transcript Alleles

HGVS Amino-acid Change
NM_012179.4:c.1132C= MANE Select NP_036311.3:p.Arg378=
ENST00000266087.12:c.1132C= MANE Select ENSP00000266087.7:p.Arg378=
NM_001033024.1:c.895C= NP_001028196.1:p.Arg299=
NM_001033024.2:c.895C= NP_001028196.1:p.Arg299=
NM_001257990.1:c.790C= NP_001244919.1:p.Arg264=
NM_001257990.2:c.790C= NP_001244919.1:p.Arg264=
NM_012179.3:c.1132C= NP_036311.3:p.Arg378=
ENST00000266087.11:c.1132C= ENSP00000266087.7:p.Arg378=
ENST00000397426.5:c.790C= ENSP00000380571.1:p.Arg264=
ENST00000420700.5:c.*711C= ENSP00000406155.1:n.*711C=
ENST00000425028.5:c.*830C= ENSP00000395823.1:n.*830C=
ENST00000452138.3:c.895C= ENSP00000388547.2:p.Arg299=
ENST00000492535.1:n.6148C=
XM_011530106.1:c.664C= XP_011528408.1:p.Arg222=
XM_024452207.1:c.790C= XP_024307975.1:p.Arg264=